Publications by authors named "Ann Charlotte Thuresson"

28Publications

Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.

RNA 2020 Nov 6;26(11):1654-1666. Epub 2020 Aug 6.

Department of Biology, Center for RNA Biology, University of Rochester, Rochester, New York 14627, USA.

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http://dx.doi.org/10.1261/rna.076380.120DOI Listing
November 2020

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Clin Genet 2019 03 7;95(3):436-439. Epub 2018 Dec 7.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/cge.13470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392105PMC
March 2019

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Eur J Paediatr Neurol 2018 Nov 27;22(6):1095-1102. Epub 2018 Aug 27.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.08.002DOI Listing
November 2018

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Am J Med Genet A 2018 08 28;176(8):1748-1752. Epub 2018 Jul 28.

Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.38840DOI Listing
August 2018

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 9;177(1):10-20. Epub 2017 Oct 9.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/ajmg.b.32574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765476PMC
January 2018

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

Hum Mutat 2017 10 12;38(10):1394-1401. Epub 2017 Jun 12.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/humu.23268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180480PMC
October 2017

Mutations in HECW2 are associated with intellectual disability and epilepsy.

J Med Genet 2016 10 22;53(10):697-704. Epub 2016 Jun 22.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2016-103814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099177PMC
October 2016

A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.

Hum Mutat 2016 09 8;37(9):964-75. Epub 2016 Jul 8.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Sweden.

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http://dx.doi.org/10.1002/humu.23034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681169PMC
September 2016

Whole ARX gene duplication is compatible with normal intellectual development.

Am J Med Genet A 2014 Sep 7;164A(9):2324-7. Epub 2014 Jul 7.

APHM, Hôpital Timone-Enfants, Département de Génétique Médicale, Marseille, France; Aix-Marseille Université, Inserm, GMGF UMR_S 910, Marseille, France.

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http://doi.wiley.com/10.1002/ajmg.a.36564
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http://dx.doi.org/10.1002/ajmg.a.36564DOI Listing
September 2014

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another.

Eur J Med Genet 2014 May-Jun;57(6):259-63. Epub 2014 Mar 12.

Department of Immunology, Genetics and Pathology, Rudbeck and Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.016DOI Listing
February 2015

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.

Neurogenetics 2011 Feb 12;12(1):65-72. Epub 2011 Jan 12.

Department of Genetics and Pathology, The Rudbeck Laboratory and Science for Life Laboratory, Uppsala University and University Hospital, SE-751 85, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s10048-010-0269-yDOI Listing
February 2011

Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1.

Eur J Med Genet 2011 Mar-Apr;54(2):189-93. Epub 2010 Dec 7.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.008DOI Listing
August 2011

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Eur J Med Genet 2010 May-Jun;53(3):117-21. Epub 2010 Mar 17.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.001DOI Listing
October 2010

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

Acta Paediatr 2009 Apr 18;98(4):693-8. Epub 2008 Dec 18.

Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/j.1651-2227.2008.01170.xDOI Listing
April 2009

Clinical variability of the 22q11.2 duplication syndrome.

Eur J Med Genet 2008 Nov-Dec;51(6):501-10. Epub 2008 Jul 29.

Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2008.07.005DOI Listing
March 2009

MLGA--a rapid and cost-efficient assay for gene copy-number analysis.

Nucleic Acids Res 2007 6;35(17):e115. Epub 2007 Sep 6.

Department of Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Se-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1093/nar/gkm651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2034490PMC
November 2007

Inhibition of poly(A) polymerase by aminoglycosides.

Biochimie 2007 Oct 8;89(10):1221-7. Epub 2007 Jun 8.

Department of Cell and Molecular Biology, Uppsala University, Box 596, SE-751 24 Uppsala, Sweden.

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http://dx.doi.org/10.1016/j.biochi.2007.06.001DOI Listing
October 2007

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Eur J Hum Genet 2007 Feb 15;15(2):143-9. Epub 2006 Nov 15.

Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201737DOI Listing
February 2007